DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of esophagus, C0546837

Disease: Cervix carcinoma

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs246079	UNG	0.790	0.120	12	109109255	intron variant	A/G;T	snv			9
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs3176352	CDKN1A	0.807	0.120	6	36684562	intron variant	C/A;G;T	snv	8.0E-06; 0.37; 2.0E-05		7
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213